Variant report

Variant	rs164283
Chromosome Location	chr1:160590765-160590766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160589254..160593885-chr1:160595406..160601586,7	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11265449	0.88[CEU][hapmap]
rs11265452	1.00[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs12048466	0.89[CEU][hapmap]
rs12733256	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1394079	0.88[CEU][hapmap]
rs1503854	1.00[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap];0.85[ASN][1000 genomes]
rs151607	0.81[JPT][hapmap]
rs164284	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16832283	1.00[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs1809963	0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs2089088	0.92[CEU][hapmap]
rs2753260	0.81[JPT][hapmap]
rs3753381	1.00[CHB][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs3753383	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs55841347	0.81[ASN][1000 genomes]
rs56168064	0.81[ASN][1000 genomes]
rs56367214	0.81[ASN][1000 genomes]
rs7550771	0.81[JPT][hapmap]
rs912582	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs927202	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829614	chr1:160465291-160595000	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv831703	chr1:160496124-160643024	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv831714	chr1:160581168-160776809	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs164283	TAGLN2	cis	cerebellum	SCAN
rs164283	DAP3	cis	parietal	SCAN
rs164283	TRIM46	cis	cerebellum	SCAN
rs164283	RIT1	cis	parietal	SCAN
rs164283	OR6K3	cis	cerebellum	SCAN
rs164283	ADAMTS4	cis	parietal	SCAN
rs164283	VANGL2	cis	cerebellum	SCAN
rs164283	MNDA	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160576200-160591400	Weak transcription	Spleen	Spleen
2	chr1:160576800-160591400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:160577000-160590800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:160579800-160593200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:160582200-160591800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
6	chr1:160584400-160594600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:160584800-160591400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:160585200-160592400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:160585600-160594800	Weak transcription	K562	blood
10	chr1:160587400-160598400	Genic enhancers	Fetal Thymus	thymus
11	chr1:160587800-160590800	Weak transcription	Dnd41	blood
12	chr1:160588000-160591200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:160588800-160598000	Genic enhancers	Thymus	Thymus
14	chr1:160589000-160592800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:160589000-160596600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:160589200-160591400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:160589600-160591400	Weak transcription	Primary T cells from cord blood	blood
18	chr1:160589600-160592200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:160589800-160590800	Strong transcription	GM12878-XiMat	blood
20	chr1:160589800-160591600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:160589800-160596200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:160589800-160599400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:160590000-160590800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:160590000-160591000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:160590200-160590800	Weak transcription	Primary B cells from cord blood	blood
26	chr1:160590200-160591400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:160590200-160591400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:160590400-160590800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:160590400-160591600	Enhancers	Primary B cells from peripheral blood	blood
30	chr1:160590400-160592600	Weak transcription	Small Intestine	intestine

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